Natural History Study of Patients With HPDL Mutations

Sponsor

University of California, San Diego (Other)

Overall Status

Recruiting

CT.gov ID

NCT05848271

Collaborator

New York University (Other), Universität Tübingen (Other), Heinrich-Heine University, Duesseldorf (Other)

Enrollment

Location

Anticipated Duration (Months)

2.5

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

Condition or Disease	Intervention/Treatment	Phase
Mitochondrial Encephalomyopathies Hereditary Spastic Paraplegia Spastic Paraplegia White Matter Disease Neonatal Encephalopathy Mutation Genetic Disease	Other: Patient Registry Other: Dry blood spots sampling

Detailed Description

A novel mitochondrial disease arises from mutations in HPDL, which codes for 4-hydroxyphenylpyruvate dioxygenase-like protein. The main purpose of this study is to establish a patient registry to gather medical data from consenting HPDL mutation patients worldwide. From longitudinal data, we will be able to figure out the natural history of the disease, and genotype-phenotype correlation. Dry blood spots will be collected to develop biomarkers to understand the disease better.

Study Design

Study Type:

Observational

Anticipated Enrollment :

50 participants

Observational Model:

Cohort

Time Perspective:

Retrospective

Official Title:

A Patient Registry and Natural History Study of Patients With Biallelic HPDL Mutations

Anticipated Study Start Date :

May 1, 2023

Anticipated Primary Completion Date :

Dec 31, 2024

Anticipated Study Completion Date :

Dec 31, 2024

Arms and Interventions

Arm	Intervention/Treatment
HPDL deficiency Patients with HPDL mutations	Other: Patient Registry Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry. Other: Dry blood spots sampling Dry blood splots require 500nl of blood.

Arm

Intervention/Treatment

HPDL deficiency

Patients with HPDL mutations

Other: Patient Registry

Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.

Other: Dry blood spots sampling

Dry blood splots require 500nl of blood.

Outcome Measures

Primary Outcome Measures

Clinician questionnaire [12 months]
Clinician-reported clinical and genetic confirmation of HPDL mutations

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Any individuals diagnosed with HPDL variants
Clinical diagnosis can include:
HPDL-related hereditary spastic paraplegia (HSP)
HPDL-related neonatal mitochondrial encephalopathy
Spastic paraplegia -83 (SPG83)
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)

Exclusion Criteria:

Any known genetic abnormality (other than HPDL mutation)
Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures